Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 2,118 | 253 | 1,808 |
| Samples | 553 | 100 | 437 |
| Peptides | 441 | 72 | 374 |
Function
GTF2IRD1 · GTF2I repeat domain containing 1
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010].
Isoforms & Proteins
4 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 391 amino-acid changes on canonical ENST00000424337 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in GTF2IRD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GTF2IRD1 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 9/40 22% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Melanoma | 12/210 6% | 61/1899 3% |
| Endometrial Carcinoma | 5/42 12% | 15/612 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Other Solid Cancers | 2/94 2% | 35/1515 2% |
| Gastric Carcinoma | 3/74 4% | 39/1809 2% |
| Colorectal Carcinoma | 14/143 10% | 58/3239 2% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 14/810 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 14/752 2% |
| Thyroid Gland Carcinoma | 6/45 13% | 22/1592 1% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 19/1390 1% |
| Non-Cancerous | 0/104 0% | 14/830 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Ovarian Carcinoma | 1/109 1% | 10/998 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Hepatocellular Carcinoma | 0/46 0% | 19/2210 1% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Neuroendocrine Tumour | 4/154 3% | 1/577 0% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Glioma | 0/52 0% | 13/2127 1% |
| Breast Carcinoma | 7/144 5% | 13/3264 0% |
Mutation Distribution
Where GTF2IRD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in GTF2IRD1 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 2,118 mutations in GTF2IRD1
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|